Associated Papers
A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex.
Jiang X et al.
Annals of Dermatology, 2021
A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex.
Tryon RK et al.
Jaad Case Reports, 2019
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K et al.
Journal of Applied Genetics, 2016
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.
Jerábková B et al.
The British Journal of Dermatology, 2010
[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
Sørensen CB et al.
Ugeskrift for Laeger, 2000
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Sørensen CB et al.
The Journal of Investigative Dermatology, 1999
Select a paper to view details